Canonical Allele Identifier: PA916037639
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102849
ClinVar RCV Id: RCV000089108 RCV000758116 RCV002287367
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.His271Tyr
CA229784
NM_001354304.2:c.811C>T